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Select item 14915848311.

rs1491584831 has merged into rs55969318 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 4:186688649 (GRCh38)
4:187609803 (GRCh37)
Canonical SPDI:: NC_000004.12:186688644:CCCCCCCC:CCCC,NC_000004.12:186688644:CCCCCCCC:CCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000004.12:186688644:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
CC=0.27536/1379 (1000Genomes)
CC=0.35/14 (GENOME_DK)
CC=0.46333/278 (NorthernSweden)
HGVS:: NC_000004.12:g.186688649_186688652del, NC_000004.12:g.186688650_186688652del, NC_000004.12:g.186688651_186688652del, NC_000004.12:g.186688652del, NC_000004.12:g.186688652dup, NC_000004.12:g.186688651_186688652dup, NC_000004.12:g.186688650_186688652dup, NC_000004.12:g.186688649_186688652dup, NC_000004.12:g.186688648_186688652dup, NC_000004.12:g.186688646_186688652dup, NC_000004.12:g.186688645_186688652dup, NC_000004.12:g.186688652_186688653insCCCCCCCCCCCC, NC_000004.12:g.186688652_186688653insCCCCCCCCCCCCC, NC_000004.12:g.186688652_186688653insCCCCCCCCCCCCCC, NC_000004.12:g.186688652_186688653insCCCCCCCCCCCCCCCC, NC_000004.11:g.187609803_187609806del, NC_000004.11:g.187609804_187609806del, NC_000004.11:g.187609805_187609806del, NC_000004.11:g.187609806del, NC_000004.11:g.187609806dup, NC_000004.11:g.187609805_187609806dup, NC_000004.11:g.187609804_187609806dup, NC_000004.11:g.187609803_187609806dup, NC_000004.11:g.187609802_187609806dup, NC_000004.11:g.187609800_187609806dup, NC_000004.11:g.187609799_187609806dup, NC_000004.11:g.187609806_187609807insCCCCCCCCCCCC, NC_000004.11:g.187609806_187609807insCCCCCCCCCCCCC, NC_000004.11:g.187609806_187609807insCCCCCCCCCCCCCC, NC_000004.11:g.187609806_187609807insCCCCCCCCCCCCCCCC, NG_046994.1:g.43268_43271del, NG_046994.1:g.43269_43271del, NG_046994.1:g.43270_43271del, NG_046994.1:g.43271del, NG_046994.1:g.43271dup, NG_046994.1:g.43270_43271dup, NG_046994.1:g.43269_43271dup, NG_046994.1:g.43268_43271dup, NG_046994.1:g.43267_43271dup, NG_046994.1:g.43265_43271dup, NG_046994.1:g.43264_43271dup, NG_046994.1:g.43271_43272insGGGGGGGGGGGG, NG_046994.1:g.43271_43272insGGGGGGGGGGGGG, NG_046994.1:g.43271_43272insGGGGGGGGGGGGGG, NG_046994.1:g.43271_43272insGGGGGGGGGGGGGGGG

Select item 14915801282.

rs1491580128 [Homo sapiens]

Variant type:: SNV:
Alleles:: TA>-
Chromosome:: no mapping
Canonical SPDI:

Select item 14915322743.

rs1491532274 has merged into rs10561120 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:186682529 (GRCh38)
4:187603683 (GRCh37)
Canonical SPDI:: NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186682526:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
AAAAAAA=0.1861/932 (1000Genomes)
HGVS:: NC_000004.12:g.186682529_186682544del, NC_000004.12:g.186682537_186682544del, NC_000004.12:g.186682538_186682544del, NC_000004.12:g.186682539_186682544del, NC_000004.12:g.186682540_186682544del, NC_000004.12:g.186682541_186682544del, NC_000004.12:g.186682542_186682544del, NC_000004.12:g.186682543_186682544del, NC_000004.12:g.186682544del, NC_000004.12:g.186682544dup, NC_000004.12:g.186682543_186682544dup, NC_000004.12:g.186682542_186682544dup, NC_000004.12:g.186682541_186682544dup, NC_000004.12:g.186682540_186682544dup, NC_000004.12:g.186682539_186682544dup, NC_000004.12:g.186682538_186682544dup, NC_000004.12:g.186682537_186682544dup, NC_000004.12:g.186682536_186682544dup, NC_000004.12:g.186682535_186682544dup, NC_000004.12:g.186682534_186682544dup, NC_000004.12:g.186682533_186682544dup, NC_000004.12:g.186682532_186682544dup, NC_000004.12:g.186682531_186682544dup, NC_000004.12:g.186682530_186682544dup, NC_000004.12:g.186682529_186682544dup, NC_000004.12:g.186682528_186682544dup, NC_000004.12:g.186682527_186682544dup, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682544_186682545insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.12:g.186682527_186682544A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000004.11:g.187603683_187603698del, NC_000004.11:g.187603691_187603698del, NC_000004.11:g.187603692_187603698del, NC_000004.11:g.187603693_187603698del, NC_000004.11:g.187603694_187603698del, NC_000004.11:g.187603695_187603698del, NC_000004.11:g.187603696_187603698del, NC_000004.11:g.187603697_187603698del, NC_000004.11:g.187603698del, NC_000004.11:g.187603698dup, NC_000004.11:g.187603697_187603698dup, NC_000004.11:g.187603696_187603698dup, NC_000004.11:g.187603695_187603698dup, NC_000004.11:g.187603694_187603698dup, NC_000004.11:g.187603693_187603698dup, NC_000004.11:g.187603692_187603698dup, NC_000004.11:g.187603691_187603698dup, NC_000004.11:g.187603690_187603698dup, NC_000004.11:g.187603689_187603698dup, NC_000004.11:g.187603688_187603698dup, NC_000004.11:g.187603687_187603698dup, NC_000004.11:g.187603686_187603698dup, NC_000004.11:g.187603685_187603698dup, NC_000004.11:g.187603684_187603698dup, NC_000004.11:g.187603683_187603698dup, NC_000004.11:g.187603682_187603698dup, NC_000004.11:g.187603681_187603698dup, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603698_187603699insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000004.11:g.187603681_187603698A[37]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_046994.1:g.49374_49389del, NG_046994.1:g.49382_49389del, NG_046994.1:g.49383_49389del, NG_046994.1:g.49384_49389del, NG_046994.1:g.49385_49389del, NG_046994.1:g.49386_49389del, NG_046994.1:g.49387_49389del, NG_046994.1:g.49388_49389del, NG_046994.1:g.49389del, NG_046994.1:g.49389dup, NG_046994.1:g.49388_49389dup, NG_046994.1:g.49387_49389dup, NG_046994.1:g.49386_49389dup, NG_046994.1:g.49385_49389dup, NG_046994.1:g.49384_49389dup, NG_046994.1:g.49383_49389dup, NG_046994.1:g.49382_49389dup, NG_046994.1:g.49381_49389dup, NG_046994.1:g.49380_49389dup, NG_046994.1:g.49379_49389dup, NG_046994.1:g.49378_49389dup, NG_046994.1:g.49377_49389dup, NG_046994.1:g.49376_49389dup, NG_046994.1:g.49375_49389dup, NG_046994.1:g.49374_49389dup, NG_046994.1:g.49373_49389dup, NG_046994.1:g.49372_49389dup, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49389_49390insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_046994.1:g.49372_49389T[36]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14915146474.

rs1491514647 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGAG,TGTGAG [Show Flanks]
Chromosome:: 4:186595316 (GRCh38)
4:187516471 (GRCh37)
Canonical SPDI:: NC_000004.12:186595316:G:GTGAG,NC_000004.12:186595316:G:GTGTGAG
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTGAG=0./0 (ALFA)
GTGTGA=0.000015/2 (GnomAD)
HGVS:: NC_000004.12:g.186595317_186595318insTGAG, NC_000004.12:g.186595317GT[2]GAG[1], NC_000004.11:g.187516471_187516472insTGAG, NC_000004.11:g.187516471GT[2]GAG[1], NG_046994.1:g.136599_136600insTCAC, NG_046994.1:g.136599_136600insTCACAC

Select item 14915050785.

rs1491505078 has merged into rs773581100 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:186645955 (GRCh38)
4:187567109 (GRCh37)
Canonical SPDI:: NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186645945:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.186645955_186645963del, NC_000004.12:g.186645957_186645963del, NC_000004.12:g.186645959_186645963del, NC_000004.12:g.186645960_186645963del, NC_000004.12:g.186645961_186645963del, NC_000004.12:g.186645962_186645963del, NC_000004.12:g.186645963del, NC_000004.12:g.186645963dup, NC_000004.12:g.186645962_186645963dup, NC_000004.12:g.186645961_186645963dup, NC_000004.12:g.186645960_186645963dup, NC_000004.12:g.186645959_186645963dup, NC_000004.12:g.186645957_186645963dup, NC_000004.11:g.187567109_187567117del, NC_000004.11:g.187567111_187567117del, NC_000004.11:g.187567113_187567117del, NC_000004.11:g.187567114_187567117del, NC_000004.11:g.187567115_187567117del, NC_000004.11:g.187567116_187567117del, NC_000004.11:g.187567117del, NC_000004.11:g.187567117dup, NC_000004.11:g.187567116_187567117dup, NC_000004.11:g.187567115_187567117dup, NC_000004.11:g.187567114_187567117dup, NC_000004.11:g.187567113_187567117dup, NC_000004.11:g.187567111_187567117dup, NG_046994.1:g.85962_85970del, NG_046994.1:g.85964_85970del, NG_046994.1:g.85966_85970del, NG_046994.1:g.85967_85970del, NG_046994.1:g.85968_85970del, NG_046994.1:g.85969_85970del, NG_046994.1:g.85970del, NG_046994.1:g.85970dup, NG_046994.1:g.85969_85970dup, NG_046994.1:g.85968_85970dup, NG_046994.1:g.85967_85970dup, NG_046994.1:g.85966_85970dup, NG_046994.1:g.85964_85970dup

Select item 14914955716.

rs1491495571 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 4:186688653 (GRCh38)
4:187609807 (GRCh37)
Canonical SPDI:: NC_000004.12:186688651:CGC:C
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.40296/1553 (ALSPAC)
-=0.42368/1571 (TWINSUK)
HGVS:: NC_000004.12:g.186688653_186688654del, NC_000004.11:g.187609807_187609808del, NG_046994.1:g.43263_43264del

Select item 14914343497.

rs1491434349 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:186676288 (GRCh38)
4:187597443 (GRCh37)
Canonical SPDI:: NC_000004.12:186676288::C
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000072/10 (GnomAD)
C=0.000425/7 (TOMMO)
C=0.003821/7 (Korea1K)
HGVS:: NC_000004.12:g.186676288_186676289insC, NC_000004.11:g.187597442_187597443insC, NG_046994.1:g.55627_55628insG

Select item 14914033678.

rs1491403367 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA,CACACACACACACACACACATA,CACACACACACACACACATA,CACACACACACACACATA,CACACACACACACATA,CACACACACACATA,CACACACACATA,CACACACATA,CACACACATATA,CACACATA,CACATA,CATA [Show Flanks]
Chromosome:: 4:186646004 (GRCh38)
4:187567159 (GRCh37)
Canonical SPDI:: NC_000004.12:186646004:A:AAA,NC_000004.12:186646004:A:ACACACACACACACACACACATA,NC_000004.12:186646004:A:ACACACACACACACACACATA,NC_000004.12:186646004:A:ACACACACACACACACATA,NC_000004.12:186646004:A:ACACACACACACACATA,NC_000004.12:186646004:A:ACACACACACACATA,NC_000004.12:186646004:A:ACACACACACATA,NC_000004.12:186646004:A:ACACACACATA,NC_000004.12:186646004:A:ACACACACATATA,NC_000004.12:186646004:A:ACACACATA,NC_000004.12:186646004:A:ACACATA,NC_000004.12:186646004:A:ACATA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACATA=0./0 (ALFA)
ACACACACACACACACACAT=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.186646005_186646006insAA, NC_000004.12:g.186646005AC[10]ATA[1], NC_000004.12:g.186646005AC[9]ATA[1], NC_000004.12:g.186646005AC[8]ATA[1], NC_000004.12:g.186646005AC[7]ATA[1], NC_000004.12:g.186646005AC[6]ATA[1], NC_000004.12:g.186646005AC[5]ATA[1], NC_000004.12:g.186646005AC[4]ATA[1], NC_000004.12:g.186646005AC[4]AT[2]A[1], NC_000004.12:g.186646005AC[3]ATA[1], NC_000004.12:g.186646005AC[2]ATA[1], NC_000004.12:g.186646005_186646006insCATA, NC_000004.11:g.187567159_187567160insAA, NC_000004.11:g.187567159AC[10]ATA[1], NC_000004.11:g.187567159AC[9]ATA[1], NC_000004.11:g.187567159AC[8]ATA[1], NC_000004.11:g.187567159AC[7]ATA[1], NC_000004.11:g.187567159AC[6]ATA[1], NC_000004.11:g.187567159AC[5]ATA[1], NC_000004.11:g.187567159AC[4]ATA[1], NC_000004.11:g.187567159AC[4]AT[2]A[1], NC_000004.11:g.187567159AC[3]ATA[1], NC_000004.11:g.187567159AC[2]ATA[1], NC_000004.11:g.187567159_187567160insCATA, NG_046994.1:g.85911_85912insTT, NG_046994.1:g.85911_85912insATGTGTGTGTGTGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGTGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGTGT, NG_046994.1:g.85911_85912insATGTGTGTGT, NG_046994.1:g.85911TA[2]TG[4]T[1], NG_046994.1:g.85911_85912insATGTGTGT, NG_046994.1:g.85911_85912insATGTGT, NG_046994.1:g.85911_85912insATGT

Select item 14914012749.

rs1491401274 has merged into rs1491059763 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 4:186638646 (GRCh38)
4:187559800 (GRCh37)
Canonical SPDI:: NC_000004.12:186638644:ATA:A,NC_000004.12:186638644:ATA:ATATA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATA=0./0 (ALFA)
-=0.00039/7 (TOMMO)
-=0.01194/46 (ALSPAC)
-=0.0472/175 (TWINSUK)
HGVS:: NC_000004.12:g.186638646_186638647del, NC_000004.12:g.186638646_186638647dup, NC_000004.11:g.187559800_187559801del, NC_000004.11:g.187559800_187559801dup, NG_046994.1:g.93270_93271del, NG_046994.1:g.93270_93271dup

Select item 149134910510.

rs1491349105 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 4:186661242 (GRCh38)
4:187582396 (GRCh37)
Canonical SPDI:: NC_000004.12:186661235:TCTCTCTC:TCTCTC
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.186661236TC[3], NC_000004.11:g.187582390TC[3], NG_046994.1:g.70673GA[3]

Select item 149131636911.

rs1491316369 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CTTGAAAATATATATATATATATATATA
Chromosome:: no mapping
Canonical SPDI:

Select item 149129415912.

rs1491294159 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA [Show Flanks]
Chromosome:: 4:186675782 (GRCh38)
4:187596936 (GRCh37)
Canonical SPDI:: NC_000004.12:186675779:AAAA:AA,NC_000004.12:186675779:AAAA:AAAAA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0.000094/1 (ALFA)
A=0.000019/2 (GnomAD)
HGVS:: NC_000004.12:g.186675782_186675783del, NC_000004.12:g.186675783dup, NC_000004.11:g.187596936_187596937del, NC_000004.11:g.187596937dup, NG_046994.1:g.56135_56136del, NG_046994.1:g.56136dup

Select item 149123331413.

rs1491233314 [Homo sapiens]

Variant type:: SNV:
Alleles:: AT>-
Chromosome:: no mapping
Canonical SPDI:

Select item 149121468514.

rs1491214685 has merged into rs55901943 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC [Show Flanks]
Chromosome:: 4:186688659 (GRCh38)
4:187609813 (GRCh37)
Canonical SPDI:: NC_000004.12:186688653:CCCCCCCCC:CCCCC,NC_000004.12:186688653:CCCCCCCCC:CCCCCC,NC_000004.12:186688653:CCCCCCCCC:CCCCCCC,NC_000004.12:186688653:CCCCCCCCC:CCCCCCCC,NC_000004.12:186688653:CCCCCCCCC:CCCCCCCCCC,NC_000004.12:186688653:CCCCCCCCC:CCCCCCCCCCC
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
C=0.27536/1379 (1000Genomes)
HGVS:: NC_000004.12:g.186688659_186688662del, NC_000004.12:g.186688660_186688662del, NC_000004.12:g.186688661_186688662del, NC_000004.12:g.186688662del, NC_000004.12:g.186688662dup, NC_000004.12:g.186688661_186688662dup, NC_000004.11:g.187609813_187609816del, NC_000004.11:g.187609814_187609816del, NC_000004.11:g.187609815_187609816del, NC_000004.11:g.187609816del, NC_000004.11:g.187609816dup, NC_000004.11:g.187609815_187609816dup, NG_046994.1:g.43259_43262del, NG_046994.1:g.43260_43262del, NG_046994.1:g.43261_43262del, NG_046994.1:g.43262del, NG_046994.1:g.43262dup, NG_046994.1:g.43261_43262dup

Select item 149120822715.

rs1491208227 has merged into rs1169141587 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 4:186679428 (GRCh38)
4:187600582 (GRCh37)
Canonical SPDI:: NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000004.12:186679416:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000004.12:g.186679428_186679443del, NC_000004.12:g.186679429_186679443del, NC_000004.12:g.186679430_186679443del, NC_000004.12:g.186679431_186679443del, NC_000004.12:g.186679432_186679443del, NC_000004.12:g.186679433_186679443del, NC_000004.12:g.186679434_186679443del, NC_000004.12:g.186679435_186679443del, NC_000004.12:g.186679436_186679443del, NC_000004.12:g.186679437_186679443del, NC_000004.12:g.186679438_186679443del, NC_000004.12:g.186679439_186679443del, NC_000004.12:g.186679440_186679443del, NC_000004.12:g.186679441_186679443del, NC_000004.12:g.186679442_186679443del, NC_000004.12:g.186679443del, NC_000004.12:g.186679443dup, NC_000004.12:g.186679442_186679443dup, NC_000004.12:g.186679441_186679443dup, NC_000004.12:g.186679440_186679443dup, NC_000004.12:g.186679439_186679443dup, NC_000004.12:g.186679421_186679443dup, NC_000004.11:g.187600582_187600597del, NC_000004.11:g.187600583_187600597del, NC_000004.11:g.187600584_187600597del, NC_000004.11:g.187600585_187600597del, NC_000004.11:g.187600586_187600597del, NC_000004.11:g.187600587_187600597del, NC_000004.11:g.187600588_187600597del, NC_000004.11:g.187600589_187600597del, NC_000004.11:g.187600590_187600597del, NC_000004.11:g.187600591_187600597del, NC_000004.11:g.187600592_187600597del, NC_000004.11:g.187600593_187600597del, NC_000004.11:g.187600594_187600597del, NC_000004.11:g.187600595_187600597del, NC_000004.11:g.187600596_187600597del, NC_000004.11:g.187600597del, NC_000004.11:g.187600597dup, NC_000004.11:g.187600596_187600597dup, NC_000004.11:g.187600595_187600597dup, NC_000004.11:g.187600594_187600597dup, NC_000004.11:g.187600593_187600597dup, NC_000004.11:g.187600575_187600597dup, NG_046994.1:g.52484_52499del, NG_046994.1:g.52485_52499del, NG_046994.1:g.52486_52499del, NG_046994.1:g.52487_52499del, NG_046994.1:g.52488_52499del, NG_046994.1:g.52489_52499del, NG_046994.1:g.52490_52499del, NG_046994.1:g.52491_52499del, NG_046994.1:g.52492_52499del, NG_046994.1:g.52493_52499del, NG_046994.1:g.52494_52499del, NG_046994.1:g.52495_52499del, NG_046994.1:g.52496_52499del, NG_046994.1:g.52497_52499del, NG_046994.1:g.52498_52499del, NG_046994.1:g.52499del, NG_046994.1:g.52499dup, NG_046994.1:g.52498_52499dup, NG_046994.1:g.52497_52499dup, NG_046994.1:g.52496_52499dup, NG_046994.1:g.52495_52499dup, NG_046994.1:g.52477_52499dup

Select item 149120170616.

rs1491201706 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 4:186688654 (GRCh38)
4:187609809 (GRCh37)
Canonical SPDI:: NC_000004.12:186688654::A
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.186688654_186688655insA, NC_000004.11:g.187609808_187609809insA, NG_046994.1:g.43261_43262insT

Select item 149117139417.

rs1491171394 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 4:186645946 (GRCh38)
4:187567101 (GRCh37)
Canonical SPDI:: NC_000004.12:186645946::C
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00017/2 (ALFA)
C=0.00021/7 (GnomAD)
HGVS:: NC_000004.12:g.186645946_186645947insC, NC_000004.11:g.187567100_187567101insC, NG_046994.1:g.85969_85970insG

Select item 149116751218.

rs1491167512 has merged into rs1343261553 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 4:186612125 (GRCh38)
4:187533279 (GRCh37)
Canonical SPDI:: NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000004.12:186612113:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.186612125_186612129del, NC_000004.12:g.186612126_186612129del, NC_000004.12:g.186612128_186612129del, NC_000004.12:g.186612129del, NC_000004.12:g.186612129dup, NC_000004.12:g.186612128_186612129dup, NC_000004.11:g.187533279_187533283del, NC_000004.11:g.187533280_187533283del, NC_000004.11:g.187533282_187533283del, NC_000004.11:g.187533283del, NC_000004.11:g.187533283dup, NC_000004.11:g.187533282_187533283dup, NG_046994.1:g.119798_119802del, NG_046994.1:g.119799_119802del, NG_046994.1:g.119801_119802del, NG_046994.1:g.119802del, NG_046994.1:g.119802dup, NG_046994.1:g.119801_119802dup

Select item 149113975319.

rs1491139753 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATAATTTATTTATTAT [Show Flanks]
Chromosome:: 4:186651071 (GRCh38)
4:187572226 (GRCh37)
Canonical SPDI:: NC_000004.12:186651071::ATAATTTATTTATTAT
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAATTTATTTATTAT=0.000169/2 (ALFA)
ATAATTTATTTATTAT=0.000299/41 (GnomAD)
HGVS:: NC_000004.12:g.186651071_186651072insATAATTTATTTATTAT, NC_000004.11:g.187572225_187572226insATAATTTATTTATTAT, NG_046994.1:g.80844_80845insATAATAAATAAATTAT

Select item 149112275720.

rs1491122757 has merged into rs34932295 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 4:186695782 (GRCh38)
4:187616936 (GRCh37)
Canonical SPDI:: NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000004.12:186695760:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: FAT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACA=0./0 (ALFA)
AC=0.3095/1550 (1000Genomes)
HGVS:: NC_000004.12:g.186695762CA[10], NC_000004.12:g.186695762CA[11], NC_000004.12:g.186695762CA[12], NC_000004.12:g.186695762CA[13], NC_000004.12:g.186695762CA[14], NC_000004.12:g.186695762CA[15], NC_000004.12:g.186695762CA[16], NC_000004.12:g.186695762CA[17], NC_000004.12:g.186695762CA[18], NC_000004.12:g.186695762CA[19], NC_000004.12:g.186695762CA[20], NC_000004.12:g.186695762CA[22], NC_000004.12:g.186695762CA[23], NC_000004.12:g.186695762CA[24], NC_000004.12:g.186695762CA[25], NC_000004.12:g.186695762CA[26], NC_000004.12:g.186695762CA[27], NC_000004.12:g.186695762CA[28], NC_000004.12:g.186695762CA[29], NC_000004.12:g.186695762CA[30], NC_000004.12:g.186695762CA[32], NC_000004.11:g.187616916CA[10], NC_000004.11:g.187616916CA[11], NC_000004.11:g.187616916CA[12], NC_000004.11:g.187616916CA[13], NC_000004.11:g.187616916CA[14], NC_000004.11:g.187616916CA[15], NC_000004.11:g.187616916CA[16], NC_000004.11:g.187616916CA[17], NC_000004.11:g.187616916CA[18], NC_000004.11:g.187616916CA[19], NC_000004.11:g.187616916CA[20], NC_000004.11:g.187616916CA[22], NC_000004.11:g.187616916CA[23], NC_000004.11:g.187616916CA[24], NC_000004.11:g.187616916CA[25], NC_000004.11:g.187616916CA[26], NC_000004.11:g.187616916CA[27], NC_000004.11:g.187616916CA[28], NC_000004.11:g.187616916CA[29], NC_000004.11:g.187616916CA[30], NC_000004.11:g.187616916CA[32], NG_046994.1:g.36114GT[10], NG_046994.1:g.36114GT[11], NG_046994.1:g.36114GT[12], NG_046994.1:g.36114GT[13], NG_046994.1:g.36114GT[14], NG_046994.1:g.36114GT[15], NG_046994.1:g.36114GT[16], NG_046994.1:g.36114GT[17], NG_046994.1:g.36114GT[18], NG_046994.1:g.36114GT[19], NG_046994.1:g.36114GT[20], NG_046994.1:g.36114GT[22], NG_046994.1:g.36114GT[23], NG_046994.1:g.36114GT[24], NG_046994.1:g.36114GT[25], NG_046994.1:g.36114GT[26], NG_046994.1:g.36114GT[27], NG_046994.1:g.36114GT[28], NG_046994.1:g.36114GT[29], NG_046994.1:g.36114GT[30], NG_046994.1:g.36114GT[32]

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